Supplementary Figure 6: Immunofluorescence of skeletal muscle biopsies using anti-TDP-43 and anti-MATR3 antibodies.
From: Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
Immunofluorescence of skeletal muscle biopsy from (a) a normal control, and (b) a patient carrying the p.Ser85Cys missense mutation in MATR3 using anti-TDP-43 and anti-MATR3 antibodies. In normal skeletal muscle, MATR3 and TDP-43 localize to nuclei including myonuclei. In the patient with the MATR3 mutation, there is decreased nuclear MATR3 immunoreactivity, whereas TDP-43 accumulates in the sarcoplasm and is restricted from the nucleus. In addition, MATR3 and TDP-43 co-aggregate in the sarcoplasm adjacent to myonuclei. Open arrow highlights a TDP-43 positive fiber (outlined in white). Closed arrows demonstrate MATR3 and TDP-43 co-localized in perinuclear inclusions. Insets are enlarged myonuclei and the scale bar is 50uM.
